Showing 119 of 119on this page. Filters & sort apply to loaded results; URL updates for sharing.119 of 119 on this page
(A) Proposed two distinct stages of SPG11 pathogenesis.... | Download ...
Frontiers | Clinical analysis in patients with SPG11 hereditary spastic ...
Frontiers | Case report: Novel mutations in the SPG11 gene in a case of ...
Mutational spectrum of SPG11 gene in Chinese SPG11 patients. a ...
Alu elements mediate large SPG11 gene rearrangements: further spatacsin ...
A novel variant in the spatacsin gene causing SPG11 in a Malian family ...
SPG11 Vesicle Trafficking Associated, Spatacsin Antibodies ...
Symptoms of HSP type SPG11. Left: Frequent symptoms associated to SPG11 ...
(PDF) Novel SPG11 mutations in Asian kindreds and disruption of ...
(PDF) Dysfunction of spatacsin leads to axonal pathology in SPG11 ...
Identification of mutations in the SPG11 gene. (A) The chromatogram ...
Mutations identified in the SPG11 gene | Download Table
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin ...
SPG11 Gene - GeneCards | SPTCS Protein | SPTCS Antibody
“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 ...
Frontiers | Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived ...
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
Schematic representation of the SPG11 gene showing the location of the ...
Frontiers | Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor ...
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with ...
Hereditary spastic paraplegia with novel SPG11 mutation from India ...
Schematic representation of the SPG11 protein and position of known ...
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment ...
Mutations identified in the SPG11 gene in nine kindreds | Download Table
Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48 - PMC
Brain MRI findings of the SPG11 patient. (A) Sagittal T1 image showing ...
Bioinformatic prediction of the SPG11 protein structure in the presence ...
SPG11 models reveal lysosomal calcium as a regulator of neural ...
SPG11 mutations A. Forward partial sequences of the SPG11 gene. In the ...
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic ...
Full article: ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in ...
Genetic heterogeneity in SPG11-HSP. (A) Schematic representation of the ...
Spatacsin Loss Promotes Lysosomal Accumulation of Gangliosides in ...
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and ...
(PDF) SPG11: a consistent clinical phenotype in a family with ...
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked ...
(PDF) ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary ...
(PDF) Janus-faced spatacsin (SPG11): Involvement in neurodevelopment ...
Spatacsin as a mediator of the two distinct stages of SPG11-HSP ...
Structural models of Spatacsin's intradiol ring-cleavage dioxygenase ...
Both spastizin and spatacsin proteins are depleted from SPG15- and ...
Loss of spatacsin causes severe cortical damage. (A and B) Brain ...
Loss of spatacsin promotes the accumulation of lipids in... | Download ...
(PDF) Mutations in SPG11, encoding spatacsin, are a major cause of ...
The loss of spatacsin (Spg11−/−) promotes the accumulation of ...
Multiple sequence alignment of human and zebrafish spatacsin proteins ...
Characterization of spatacsin expression in human-derived neurons. (A ...
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic ...
Identification of Novel Mutations in Spatacsin and Apolipoprotein B ...
Interaction between AP-5 and the hereditary spastic paraplegia proteins ...
(PDF) Distant homologies and domain conservation of the Hereditary ...
PKA-mediated phosphorylation initiates spatacsin traffic from the ...
Schematic representations of the SPG11, CYP7B1 and paraplegin proteins ...
Loss of spatacsin function alters lysosomal lipid clearance leading to ...
Loss of spatacsin impairs cholesterol trafficking and calcium ...
Strong ubiquitous expression of endogenous spatacsin and spastizin in ...
Purkinje cells in Spatacsin knockout mice accumulate abnormal ...
Synopsis of clinical and electrophysiological data | Download Table
Neuroinflammatory disease signatures in SPG11-related hereditary ...
Frontiers | Neuroimaging in Hereditary Spastic Paraplegias: Current Use ...
Study of SPG11’s splicing, in neuronal and non-neuronal cells, by long ...
JCI - Spastic paraplegia proteins spastizin and spatacsin mediate ...
Magnetic resonance imaging of the brain of a patient with mutation in ...
Schematic representation of the ALS5/SPG11 protein and position of ...
NCM 2022: Study of *SPG11’s* splicing, in neuronal and non-neuronal ...
Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient ...
Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of ...
Figure 1 from A complex form of hereditary spastic paraplegia harboring ...
Spatacsin regulates directionality of lysosome trafficking by promoting ...
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by ...
(PDF) Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with ...
Whole-genome sequencing of two probands with hereditary spastic ...